ClinGen Allele Registry
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Canonical Allele Identifier:
PA318741
Gene: SPTAN1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000189529
RCV001314638
RCV001808522
RCV002362991
ClinVar Variation:
207355
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001123910.1:p.Arg2166Cys
CA318740
NM_001130438.3:c.6496C>T